Shank3 Mutant Mice Display Autistic-like Behaviors and Striatal Dysfunction

Source: 
Nature, Peça et al.
Year Published: 
2011

Currently, the neurological basis of autism spectrum disorders (ASDs) is poorly understood. “Shank3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for the development of 22q13 deletion syndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs”. In this study, mice with the Shank3 deletion were seen to exhibit “self-injurious repetitive grooming and deficits in social interaction.” Cellular, electrophysiological, and biochemical analyses revealed defects at striatal synapses and cortico-striatal circuits in Shank3 mutant mice. The study’s findings demonstrate that Shank3 plays a critical role in the development of neuronal connectivity. The study also established a causality between a disruption in the Shank3 gene and the beginning of autistic-like behaviors in mice.